Gene Therapy Offers Hope for “Worst Disease You’ve Never Heard Of”

“UNRELENTING PAIN”

In order to treat a disease described as the “worst disease you’ve never heard of,” researchers at Stanford University are turning to gene therapy.

The disease is called epidermolysis bullosa and is categorized by blistering of the skin that can be caused by a variety of simple irritations that wouldn’t affect normal skin. The disease usually manifests in infancy or early childhood.

One of the study’s participants, Monique Roeder, was an infant when doctors discovered she had the rare disease. Her feet erupted in blisters when they were being prepared for a souvenir birth certificate. In preparation for the therapy, Roeder had some cells extracted which were then exposed to a virus containing the correct version of the genes causing the disease. These treated cells were then allowed to incubate and grow for a few months until they were sheets roughly the size of an iPhone.

Finally, the sheets were grafted onto her skin covering some of her worst injuries, including a sixteen-year-old open wound. After a week long hospital stay, they were removed. Underneath the bandages, they found that healthy skin had formed, replacing what used to be her trademark blisters and sores.

Treated patients reported less pain and discomfort in performing daily tasks. While the treatment does seem to be quite successful, it is not a permanent cure for the disease. Skin sheds naturally and the benefits seem to wear off about a year after treatment.

HEALING OURSELVES

Gene editing and the development of gene therapies are cropping up across a vast array medical fields. In the recent past, the ability to take the very building blocks of an organism to help heal it was something clinicians could only have dreamed of. Now, we are seeing potential therapies being used to reverse blindness, cure blood disorders, prevent the inheritance of harmful mutations, and even battle aging. These technological advances are giving humans the ability to heal themselves in truly unprecedented ways.

Gene therapy is a controversial subject, and not just in terms of ethics. There are also health concerns connected with some therapies. As with the epidermolysis bullosa treatment, many gene therapies employ modified viruses as a delivery system. One of the significant side effects of these therapies was cancer, However, researchers are discovering ways to eliminate such side effects. More research will continue to make these methods safer.

This technology is already saving lives, and with the discovery of more successful applications, will continue to do so.